PC3
MCID: PCH010
MIFTS: 43

Pachyonychia Congenita 3 (PC3)

Categories: Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Pachyonychia Congenita 3

MalaCards integrated aliases for Pachyonychia Congenita 3:

Name: Pachyonychia Congenita 3 56 73 29 6 71
Pc3 56 73
Pachyonychia Congenita, Type 3 39
Pc-3 17

Classifications:



Summaries for Pachyonychia Congenita 3

OMIM : 56 Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. Although the condition had previously been subdivided clinically into Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2, patients with PC were later found to have a mixed constellation of both types, leading to a classification of PC based on genotype (summary by Sybert, 2010; Eliason et al., 2012; McLean et al., 2011). For a discussion of genetic heterogeneity of pachyonychia congenita, see 167200. (615726)

MalaCards based summary : Pachyonychia Congenita 3, also known as pc3, is related to prostate cancer and suppression of tumorigenicity 12. An important gene associated with Pachyonychia Congenita 3 is KRT6A (Keratin 6A). The drugs Remifentanil and Narcotics have been mentioned in the context of this disorder. Affiliated tissues include prostate, bone and breast, and related phenotypes are hyperhidrosis and palmoplantar keratoderma

UniProtKB/Swiss-Prot : 73 Pachyonychia congenita 3: An autosomal dominant genodermatosis characterized by hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.

Related Diseases for Pachyonychia Congenita 3

Diseases in the Pachyonychia Congenita, Autosomal Recessive family:

Pachyonychia Congenita 1 Pachyonychia Congenita 2
Pachyonychia Congenita 3 Pachyonychia Congenita 4

Diseases related to Pachyonychia Congenita 3 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 90)
# Related Disease Score Top Affiliating Genes
1 prostate cancer 11.0
2 suppression of tumorigenicity 12 10.4
3 insulin-like growth factor i 10.3
4 retinoblastoma 10.3
5 pertussis 10.3
6 insulinoma 10.3
7 familial retinoblastoma 10.3
8 severe combined immunodeficiency 10.3
9 48,xyyy 10.3
10 bone resorption disease 10.3
11 hypoxia 10.2
12 skin disease 10.2
13 pituitary tumors 10.2
14 osteogenic sarcoma 10.2
15 glioblastoma multiforme 10.2
16 fibrosarcoma 10.2
17 combined t cell and b cell immunodeficiency 10.2
18 rapidly involuting congenital hemangioma 10.2
19 breast cancer 10.1
20 prostate cancer, hereditary, 3 10.1
21 familial adenomatous polyposis 10.1
22 small cell carcinoma 10.1
23 prostatitis 10.1
24 cholera 10.1
25 adenocarcinoma 10.1
26 vaccinia 10.1
27 pituitary adenoma 10.1
28 adenoma 10.1
29 hypertriglyceridemia, familial 10.1
30 multicentric carpotarsal osteolysis syndrome 10.1
31 neuroblastoma 10.1
32 neurofibromatosis, type ii 9.9
33 alopecia, androgenetic, 1 9.9
34 colorectal cancer 9.9
35 hypercholesterolemia, familial, 1 9.9
36 endosteal hyperostosis, autosomal dominant 9.9
37 medulloblastoma 9.9
38 antigen defined by monoclonal antibody aj9 9.9
39 pheochromocytoma 9.9
40 greig cephalopolysyndactyly syndrome 9.9
41 triiodothyronine receptor auxiliary protein 9.9
42 ataxia-telangiectasia 9.9
43 hypogonadotropic hypogonadism 1 with or without anosmia 9.9
44 prostatic hyperplasia, benign 9.9
45 leukemia, acute myeloid 9.9
46 hemophagocytic lymphohistiocytosis, familial, 2 9.9
47 nasopharyngeal carcinoma 9.9
48 acute promyelocytic leukemia 9.9
49 gastric cancer 9.9
50 pulmonary hypertension, primary, 2 9.9

Graphical network of the top 20 diseases related to Pachyonychia Congenita 3:



Diseases related to Pachyonychia Congenita 3

Symptoms & Phenotypes for Pachyonychia Congenita 3

Human phenotypes related to Pachyonychia Congenita 3:

31 (show all 11)
# Description HPO Frequency HPO Source Accession
1 hyperhidrosis 31 HP:0000975
2 palmoplantar keratoderma 31 HP:0000982
3 nail dystrophy 31 HP:0008404
4 gingivitis 31 HP:0000230
5 furrowed tongue 31 HP:0000221
6 oral leukoplakia 31 HP:0002745
7 epidermoid cyst 31 HP:0200040
8 plantar hyperkeratosis 31 HP:0007556
9 onychogryposis of toenails 31 HP:0008401
10 palmar hyperkeratosis 31 HP:0010765
11 chapped lip 31 HP:0040181

Clinical features from OMIM:

615726

Drugs & Therapeutics for Pachyonychia Congenita 3

Drugs for Pachyonychia Congenita 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 24)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Remifentanil Approved Phase 4 132875-61-7 60815
2 Narcotics Phase 4
3 Anesthetics Phase 4
4 Analgesics, Opioid Phase 4
5 Central Nervous System Depressants Phase 4
6 Analgesics Phase 4
7
Paclitaxel Approved, Vet_approved Phase 3 33069-62-4 36314
8
Epirubicin Approved Phase 3 56420-45-2 41867
9
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
10
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
11 Antimitotic Agents Phase 3
12 Anti-Bacterial Agents Phase 3
13 Alkylating Agents Phase 3
14 Immunologic Factors Phase 3
15 Antibiotics, Antitubercular Phase 3
16 Albumin-Bound Paclitaxel Phase 3
17 Topoisomerase Inhibitors Phase 3
18 Antirheumatic Agents Phase 3
19 Immunosuppressive Agents Phase 3
20
Gefitinib Approved, Investigational Phase 2 184475-35-2 123631
21
Docetaxel Approved, Investigational Phase 2 114977-28-5 148124
22 Protein Kinase Inhibitors Phase 2
23
Parathyroid hormone Approved, Investigational 9002-64-6
24 Liver Extracts

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of Two Plasma Concentrations of Remifentanil Through Target Controlled Anesthesia on Frequency and Intensity of Coughing During Extubation: Randomized Controlled Clinical Trial Completed NCT02711904 Phase 4 Extubation U;Extubation T
2 Randomized Phase Ⅲ Trial Comparing Dose-dense Epirubicin and Cyclophosphamide Followed by Paclitaxel With Paclitaxel Plus Carboplatin as Adjuvant Therapy for Triple-negative Breast Cancer. Unknown status NCT01378533 Phase 3 epirubicin, cyclophosphamide, paclitaxel, carboplatin, G-CSF
3 Phase II Trial of Neoadjuvant Docetaxel and ZD 1839 (Iressa) Followed by Radical Prostatectomy in Patients With High Risk, Locally Advanced Prostate Cancer Completed NCT00242918 Phase 2 docetaxel;ZD1839
4 Effect and Mechanism of Acupuncture on Patients With Functional Dyspepsia: a Protocol for a Randomized, Assessor-blind, Sham-controlled Trial Unknown status NCT02358486
5 Improving Pain Management in Cancer Care Completed NCT00036829
6 Intervention Based on the Use of Patient Feedback Collected for Improving Patient Safety in Spanish Primary Care (PC) Centres Not yet recruiting NCT03837912

Search NIH Clinical Center for Pachyonychia Congenita 3

Genetic Tests for Pachyonychia Congenita 3

Genetic tests related to Pachyonychia Congenita 3:

# Genetic test Affiliating Genes
1 Pachyonychia Congenita 3 29 KRT6A

Anatomical Context for Pachyonychia Congenita 3

MalaCards organs/tissues related to Pachyonychia Congenita 3:

40
Prostate, Bone, Breast, Endothelial, Lung, Colon, T Cells

Publications for Pachyonychia Congenita 3

Articles related to Pachyonychia Congenita 3:

(show top 50) (show all 7164)
# Title Authors PMID Year
1
Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. 56 6
22668561 2012
2
The genetic basis of pachyonychia congenita. 56 6
16250206 2005
3
Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita. 56 6
11886499 2001
4
Mutation of a type II keratin gene (K6a) in pachyonychia congenita. 56 6
7545493 1995
5
Pachyonychia congenita in pediatric patients: natural history, features, and impact. 56
24132595 2014
6
A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita. 56
22264670 2012
7
The phenotypic and molecular genetic features of pachyonychia congenita. 56
21430705 2011
8
Pachyonychia Congenita 6
20301457 2006
9
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. 56
9618173 1998
10
A mutation in the mucosal keratin K4 is associated with oral white sponge nevus. 6
7493030 1995
11
Design, synthesis and in vitro biological evaluation of quinazolinone derivatives as EGFR inhibitors for antitumor treatment. 61
31967481 2020
12
Anticancer and Antibacterial Activities of Silver Nanoparticles (AgNPs) Synthesized from Cucumis melo L. 61
31968432 2020
13
Biological Synthesis of CdTe Quantum Dots and Their Anti-Proliferative Assessment Against Prostate Cancer Cell Line. 61
31748032 2020
14
Synthesis of bioactive quinazolin-4(3H)-one derivatives via microwave activation tailored by phase-transfer catalysis. 61
31955144 2020
15
SOX7 is involved in polyphyllin D-induced G0/G1 cell cycle arrest through down-regulation of cyclin D1. 61
31955140 2020
16
A new xanthyletin-type coumarin from the roots of Peucedanum praeruptorum. 61
30621449 2020
17
Study of oxyresveratrol complexes with insoluble cyclodextrin based nanosponges: Developing a novel way to obtain their complexation constants and application in an anticancer study. 61
31888848 2020
18
Olfactomedin 4 downregulation is associated with tumor initiation, growth and progression in human prostate cancer. 61
31241767 2020
19
Ascleposide, a natural cardenolide, induces anticancer signaling in human castration-resistant prostatic cancer through Na+ /K+ -ATPase internalization and tubulin acetylation. 61
31905252 2020
20
Synthesis and Design of Norfloxacin drug delivery system based on PLA/TiO2 nanocomposites: Antibacterial and antitumor activities. 61
31923987 2020
21
Effects of gametogenetin-binding protein 2 on proliferation, invasion and migration of prostate cancer PC-3 cells. 61
31797427 2020
22
Triterpenoids from the barks of Juglans hopeiensis. 61
31778881 2020
23
Anisamide-functionalized pH-responsive amphiphilic chitosan-based paclitaxel micelles for sigma-1 receptor targeted prostate cancer treatment. 61
31826492 2020
24
Expansion of chemical space based on a pyrrolo[1,2-a]pyrazine core: Synthesis and its anticancer activity in prostate cancer and breast cancer cells. 61
31901746 2020
25
Meeting organometallic chemistry with drug discovery: CH activation enabled discovery of a new ring system of 12H-Indazolo[2,1-a]cinnolin-12-ones with anti-proliferation activity. 61
31889668 2020
26
GPR75 receptor mediates 20-HETE-signaling and metastatic features of androgen-insensitive prostate cancer cells. 61
31760076 2020
27
Stanniocalcin-1 protein expression profile and mechanisms in proliferation and cell death pathways in prostate cancer. 61
31816356 2020
28
Synthesis and anti-tumour, immunomodulating activity of diosgenin and tigogenin conjugates. 61
32017993 2020
29
Synthesis and biological evaluation of some novel 1,2,3-triazole hybrids of myrrhanone B isolated from Commiphora mukul gum resin: Identification of potent antiproliferative leads active against prostate cancer cells (PC-3). 61
31883489 2020
30
Comparison of biological properties of [177 Lu]Lu-ProBOMB1 and [177 Lu]Lu-NeoBOMB1 for GRPR targeting. 61
31715025 2020
31
Development of selective mono or dual PROTAC degrader probe of CDK isoforms. 61
31846828 2020
32
Synthesis and anti-cancer activity studies of dammarane-type triterpenoid derivatives. 61
31862444 2020
33
Development of 18F-fluoroglycosylated PSMA-ligands with improved renal clearance behavior. 61
32011889 2020
34
Preoperative Comorbidities and Outcomes of Medically Complex Living Kidney Donors. 61
31922057 2020
35
Geranylated 4-phenylcoumarins extracted from Mesua elegans induced caspase-independent cell death in prostate cancer cell lines through calpain-2 and cathepsin B. 61
31969640 2020
36
VEGFR-2 inhibiting effect and molecular modeling of newly synthesized coumarin derivatives as anti-breast cancer agents. 61
31992477 2020
37
Synthesis of flavonoids nitrogen mustard derivatives and study on their antitumor activity in vitro. 61
32028061 2020
38
Design, synthesis and biological evaluation of novel indole-based oxalamide and aminoacetamide derivatives as tubulin polymerization inhibitors. 61
31753698 2020
39
γ-Tocotrienol and α-Tocopherol Ether Acetate Enhance Docetaxel Activity in Drug-Resistant Prostate Cancer Cells. 61
31963634 2020
40
Dysregulation of the splicing machinery is directly associated to aggressiveness of prostate cancer. 61
31902674 2020
41
Identification of retinoid acid induced 16 as a novel androgen receptor target in prostate cancer cells. 61
32014455 2020
42
Pharmacological inhibition of androgen receptor expression induces cell death in prostate cancer cells. 61
31894360 2020
43
Brevifoliol ester induces apoptosis in prostate cancer cells by activation of caspase pathway. 61
31585016 2020
44
Rosa canina Extract has Antiproliferative and Proapoptotic Effects on Human Lung and Prostate Cancer Cells. 61
31184219 2020
45
Glycyrrhiza glabra-Enhanced Extract and Adriamycin Antiproliferative Effect on PC-3 Prostate Cancer Cells. 61
31274029 2020
46
The influence of hypoxia on the prostate cancer proteome. 61
31940282 2020
47
New Acetohydrazides Incorporating 2-Oxoindoline and 4-Oxoquinazoline: Synthesis and Evaluation of Cytotoxicity and Caspase Activation Activity. 61
31943757 2020
48
Synergistic combination treatment to break cross talk between cancer cells and bone cells to inhibit progression of bone metastasis. 61
31654872 2020
49
Analysis of the Potential for N4-Hydroxycytidine To Inhibit Mitochondrial Replication and Function. 61
31767721 2020
50
Antioxidation and Antiapoptosis Characteristics of Heme Oxygenase-1 Enhance Tumorigenesis of Human Prostate Carcinoma Cells. 61
31810001 2020

Variations for Pachyonychia Congenita 3

ClinVar genetic disease variations for Pachyonychia Congenita 3:

6 (show all 11) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT6A NM_005554.4(KRT6A):c.1460-2A>CSNV Pathogenic 156022 rs113369052 12:52881741-52881741 12:52487957-52487957
2 KRT6A NM_005554.4(KRT6A):c.510_512CAA[2] (p.Asn172del)short repeat Pathogenic 14634 rs606231214 12:52886455-52886457 12:52492671-52492673
3 KRT6A NM_005554.4(KRT6A):c.520T>G (p.Phe174Val)SNV Pathogenic 14635 rs28933087 12:52886453-52886453 12:52492669-52492669
4 KRT6A NM_005554.4(KRT6A):c.1414G>A (p.Glu472Lys)SNV Pathogenic 14636 rs60554162 12:52882122-52882122 12:52488338-52488338
5 KRT6A NM_005554.4(KRT6A):c.1406T>G (p.Leu469Arg)SNV Pathogenic 14637 rs57052654 12:52882130-52882130 12:52488346-52488346
6 KRT6A NM_005554.4(KRT6A):c.1406T>C (p.Leu469Pro)SNV Pathogenic 66576 rs57052654 12:52882130-52882130 12:52488346-52488346
7 KRT6A NM_005554.4(KRT6A):c.511A>G (p.Asn171Asp)SNV Pathogenic 66585 rs62635294 12:52886462-52886462 12:52492678-52492678
8 KRT6A NM_005554.4(KRT6A):c.511A>T (p.Asn171Tyr)SNV Pathogenic 66586 rs62635294 12:52886462-52886462 12:52492678-52492678
9 KRT6A NM_005554.4(KRT6A):c.512A>G (p.Asn171Ser)SNV Pathogenic 66588 rs58556099 12:52886461-52886461 12:52492677-52492677
10 KRT6A NM_005554.4(KRT6A):c.513C>A (p.Asn171Lys)SNV Pathogenic 66589 rs59685571 12:52886460-52886460 12:52492676-52492676
11 KRT6A NM_005554.4(KRT6A):c.521T>C (p.Phe174Ser)SNV Pathogenic 66591 rs61145796 12:52886452-52886452 12:52492668-52492668

UniProtKB/Swiss-Prot genetic disease variations for Pachyonychia Congenita 3:

73 (show all 24)
# Symbol AA change Variation ID SNP ID
1 KRT6A p.Phe174Val VAR_017075 rs28933087
2 KRT6A p.Leu469Arg VAR_017076 rs57052654
3 KRT6A p.Glu472Lys VAR_017077 rs60554162
4 KRT6A p.Arg164Pro VAR_072446 rs62635293
5 KRT6A p.Gln166Pro VAR_072447 rs267607460
6 KRT6A p.Ile167Asn VAR_072448 rs57126929
7 KRT6A p.Leu170Phe VAR_072449 rs57448541
8 KRT6A p.Asn171Asp VAR_072450 rs62635294
9 KRT6A p.Asn171Lys VAR_072451 rs59685571
10 KRT6A p.Asn171Ser VAR_072452 rs58556099
11 KRT6A p.Asn171Tyr VAR_072453 rs62635294
12 KRT6A p.Phe174Cys VAR_072455 rs61145796
13 KRT6A p.Phe174Ser VAR_072456 rs61145796
14 KRT6A p.Ser176Pro VAR_072457 rs59642296
15 KRT6A p.Ile178Asn VAR_072458 rs267607461
16 KRT6A p.Ile462Asn VAR_072459 rs57629991
17 KRT6A p.Ile462Ser VAR_072460 rs57629991
18 KRT6A p.Ala463Pro VAR_072461 rs267607462
19 KRT6A p.Thr464Pro VAR_072462 rs61293647
20 KRT6A p.Tyr465His VAR_072463 rs267607463
21 KRT6A p.Tyr465Ser VAR_072464
22 KRT6A p.Leu468Pro VAR_072465 rs59018888
23 KRT6A p.Leu468Gln VAR_072466 rs59018888
24 KRT6A p.Leu469Pro VAR_072467 rs57052654

Expression for Pachyonychia Congenita 3

Search GEO for disease gene expression data for Pachyonychia Congenita 3.

Pathways for Pachyonychia Congenita 3

GO Terms for Pachyonychia Congenita 3

Sources for Pachyonychia Congenita 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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